NR ACMR
AU Chapman,J.C.; Arlazoroff,A.; Goldfarb,L.G.; Cervenakova,L.; Neufeld,M.Y.; Werber,E.; Herbert,M.; Brown,P.; Gajdusek,D.C.; Korczyn,A.D.
TI Fatal insomnia in a case of familial Creutzfeldt-Jakob disease with the codon 200(Lys) mutation
QU Neurology 1996 Mar; 46(3): 758-61
PT journal article
AB Fatal familial insomnia (FFI) has been exclusively associated with a pathogenic mutation at codon 178 in the PRNP gene coupled with methionine (Met) at codon 129. We now describe a subject with familial Creutzfeldt-Jakob disease, heterozygous for the pathogenic lysine (Lys) mutation at codon 200 and homozygous for Met at codon 129 of the PRNP gene, who was affected by severe insomnia. At autopsy the patient had significant involvement of the thalamus, as previously described in subjects affected by FFI with the codon 178 mutation. This case demonstrates the wide variability of the clinical expressions in patients with the codon 200 mutation, that may include insomnia and thalamic pathology.
IN Bisher wurde die fatale familiäre Schlaflosigkeit nur bei Mutationen im Codon 178 in Verbindung mit Methionin-129 festgestellt. Nun starb ein Mensch mit einer pathogenen Lysinmutation im Codon 200 von einem der beiden Prionproteingene, der gleichzeitig homozygot für Methionin im Codon 129 war. Er hatte die Symptome einer fatalen familiären Schlaflosigkeit und schwere Schäden im Thalamus. Dies zeigt, wie variabel die klinischen Ausprägungen der Codon-200-Mutationen sein können.
ZR 16
MH Amyloid/genetics; Brain/pathology; Case Report; *Codon; Creutzfeldt-Jakob Syndrome/*complications/*genetics/pathology; Fatal Outcome; Female; Human; Middle Age; *Mutation; Prion Diseases/*complications/*genetics/pathology; Protein Precursors/genetics; Sleep Initiation and Maintenance Disorders/*genetics
AD Department of Neurology, Tel Aviv Medical Center, Tel Aviv, Israel.
SP englisch
PO USA
OR Prion-Krankheiten C